This is a review summarizing atrial fibrillation-linked somatic and germline mutations in the gene encoding Cx40. Multiple impairments were observed in these mutants, including impaired gap junction function by abnormal localization or function, as well as increased hemichannel function.

Human atrial myocytes express Cx40 and Cx43 (show GJA1 ELISA Kits). However, in vitro expression study indicates that human Cx40 is not able to dock with Cx43 (show GJA1 ELISA Kits) to form heterotypic gap junction channels. This study designed two Cx40 variants, D55N or P193Q. Both of them were successful in forming functional heterotypic gap junction channels with Cx43 (show GJA1 ELISA Kits).

Two polymorphisms in the Cx40 promoter are associated with hypertension and left ventricular hypertrophy preferentially in men.

Report interaction between ALK1 (show ACVRL1 ELISA Kits) signaling and connexin40 in the development of arteriovenous malformations.

Reduced Cx40 levels and heterogeneity of its distribution (relative to Cx43 (show GJA1 ELISA Kits)) are common in atrial fibrillation.

These findings provide evidence that the connexin 40 Q49X mutant is capable of impairing gap-junction distribution and function of key atrial connexins, which might play a role in the predisposition to and onset of atrial fibrillation.

17-beta-estradiol modulates connexins and integrins as well as ER-beta (show ESR2 ELISA Kits) expression induced by high frequency electromagnetic fields.

the germline familial mutations in Cx40 impair the gap junctions through different mechanisms, which may predispose the mutant carriers to AF.

GJA5 Antigen Profile

Antigen Summary

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described.